MTFMT

Functionⁱ

Formylates methionyl-tRNA in mitochondria. A single tRNA(Met) gene gives rise to both an initiator and an elongator species via an unknown mechanism (By similarity).By similarity

Catalytic activityⁱ

10-formyltetrahydrofolate + L-methionyl-tRNA(fMet) = tetrahydrofolate + N-formylmethionyl-tRNA(fMet).

GO - Molecular functionⁱ

methionyl-tRNA formyltransferase activity Source: GO_Central

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Transferase
Biological process	Protein biosynthesis

Enzyme and pathway databases

Reactomeⁱ	R-HSA-5368286 Mitochondrial translation initiation

Reactomeⁱ

R-HSA-5368286 Mitochondrial translation initiation

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Methionyl-tRNA formyltransferase, mitochondrial (EC:2.1.2.9) Short name: MtFMT
Gene namesⁱ	Name:MTFMT Synonyms:FMT, FMT1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 15

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000103707.9
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:29666 MTFMT
MIMⁱ	611766 gene
neXtProtⁱ	NX_Q96DP5

Keywords - Cellular componentⁱ

Mitochondrion

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Combined oxidative phosphorylation deficiency 15 (COXPD15)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_069303	125	S → L in COXPD15. 1 PublicationCorresponds to variant dbSNP:rs397514614EnsemblClinVar.		1
Natural variantⁱVAR_069304	209	S → L in COXPD15; also found in Leigh syndrome. 2 PublicationsCorresponds to variant dbSNP:rs201431517EnsemblClinVar.		1

Leigh syndrome (LS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.

Keywords - Diseaseⁱ

Disease mutation, Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNET More...DisGeNETⁱ	123263
MalaCards human disease database More...MalaCardsⁱ	MTFMT
MIMⁱ	256000 phenotype 614947 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000103707
Orphanetⁱ	319524 Combined oxidative phosphorylation defect type 15 2609 Isolated NADH-CoQ reductase deficiency
PharmGKBⁱ	PA142671304

Chemistry databases

Drug and drug target database More...DrugBankⁱ	DB00116 Tetrahydrofolic acid

DrugBankⁱ

DB00116 Tetrahydrofolic acid

Polymorphism and mutation databases

BioMutaⁱ	MTFMT
DMDMⁱ	27923776

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000010093	? – 389	Methionyl-tRNA formyltransferase, mitochondrial
Transit peptideⁱ	1 – ?	MitochondrionSequence analysis

Proteomic databases

EPDⁱ	Q96DP5
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q96DP5
PaxDbⁱ	Q96DP5
PeptideAtlas More...PeptideAtlasⁱ	Q96DP5
PRIDEⁱ	Q96DP5
ProteomicsDBⁱ	76304

PTM databases

iPTMnetⁱ	Q96DP5
PhosphoSitePlusⁱ	Q96DP5

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000103707
CleanExⁱ	HS_MTFMT
ExpressionAtlasⁱ	Q96DP5 baseline and differential
Genevisibleⁱ	Q96DP5 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA040710

HPAⁱ

HPA040710

Interactionⁱ

Protein-protein interaction databases

BioGridⁱ	125820, 10 interactors
STRINGⁱ	9606.ENSP00000220058

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q96DP5
SMRⁱ	Q96DP5
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domainⁱ

Composed of an N- and a C-terminal domain. The N-terminal domain carries the tetrahydrofolate (THF)-binding site and the C-terminal domain is presumably involved in positioning the Met-tRNA substrate for the formylation reaction.

Sequence similaritiesⁱ

Belongs to the Fmt family.Curated

Keywords - Domainⁱ

Transit peptide

Phylogenomic databases

eggNOGⁱ	KOG3082 Eukaryota COG0223 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000017828
HOGENOMⁱ	HOG000261177
HOVERGENⁱ	HBG031552
InParanoidⁱ	Q96DP5
KEGG Orthology (KO) More...KOⁱ	K00604
OMAⁱ	NFYKYKR
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0QUP
PhylomeDBⁱ	Q96DP5
TreeFamⁱ	TF323405

Family and domain databases

Gene3Dⁱ	3.10.25.10, 1 hit
InterProⁱ	View protein in InterPro IPR005794 Fmt IPR005793 Formyl_trans_C IPR037022 Formyl_trans_C_sf IPR002376 Formyl_transf_N IPR036477 Formyl_transf_N_sf IPR011034 Formyl_transferase-like_C_sf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF02911 Formyl_trans_C, 1 hit PF00551 Formyl_trans_N, 1 hit
SUPFAMⁱ	SSF50486 SSF50486, 1 hit SSF53328 SSF53328, 1 hit
TIGRFAMsⁱ	TIGR00460 fmt, 1 hit

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: Q96DP5-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRVLVRRCWG PPLAHGARRG RPSPQWRALA RLGWEDCRDS RVREKPPWRV 
        60         70         80         90        100
LFFGTDQFAR EALRALHAAR ENKEEELIDK LEVVTMPSPS PKGLPVKQYA 
       110        120        130        140        150
VQSQLPVYEW PDVGSGEYDV GVVASFGRLL NEALILKFPY GILNVHPSCL 
       160        170        180        190        200
PRWRGPAPVI HTVLHGDTVT GVTIMQIRPK RFDVGPILKQ ETVPVPPKST 
       210        220        230        240        250
AKELEAVLSR LGANMLISVL KNLPESLSNG RQQPMEGATY APKISAGTSC 
       260        270        280        290        300
IKWEEQTSEQ IFRLYRAIGN IIPLQTLWMA NTIKLLDLVE VNSSVLADPK 
       310        320        330        340        350
LTGQALIPGS VIYHKQSQIL LVYCKDGWIG VRSVMLKKSL TATDFYNGYL 
       360        370        380 
HPWYQKNSQA QPSQCRFQTL RLPTKKKQKK TVAMQQCIE

Length:389

Mass (Da):43,832

Last modified:January 27, 2003 - v2

Checksum:ⁱEBBE92142AB954E0

GO

Isoform 2 (identifier: Q96DP5-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
141-144: GILN → SFQF
145-389: Missing.

« Hide

        10         20         30         40         50
MRVLVRRCWG PPLAHGARRG RPSPQWRALA RLGWEDCRDS RVREKPPWRV 
        60         70         80         90        100
LFFGTDQFAR EALRALHAAR ENKEEELIDK LEVVTMPSPS PKGLPVKQYA 
       110        120        130        140 
VQSQLPVYEW PDVGSGEYDV GVVASFGRLL NEALILKFPY SFQF

Note: No experimental confirmation available.

Show »

Length:144

Mass (Da):16,548

Checksum:ⁱ7BB7825B64E39247

GO

Sequence cautionⁱ

The sequence AAH16630 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

The sequence AAH33687 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

The sequence BAB70984 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_059289	5	V → A. Corresponds to variant dbSNP:rs2946655EnsemblClinVar.	1
Natural variantⁱVAR_069303	125	S → L in COXPD15. 1 PublicationCorresponds to variant dbSNP:rs397514614EnsemblClinVar.	1
Natural variantⁱVAR_069304	209	S → L in COXPD15; also found in Leigh syndrome. 2 PublicationsCorresponds to variant dbSNP:rs201431517EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_057059	141 – 144	GILN → SFQF in isoform 2. 1 Publication		4
Alternative sequenceⁱVSP_057060	145 – 389	Missing in isoform 2. 1 PublicationAdd BLAST		245

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AK055688 mRNA Translation: BAB70984.1 Different initiation. AK301390 mRNA Translation: BAH13470.1 AC013553 Genomic DNA No translation available. AC103691 Genomic DNA No translation available. BC016630 mRNA Translation: AAH16630.2 Different initiation. BC033687 mRNA Translation: AAH33687.1 Different initiation.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS45280.1 [Q96DP5-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_640335.2, NM_139242.3 [Q96DP5-1]
UniGeneⁱ	Hs.531615

Genome annotation databases

Ensemblⁱ	ENST00000220058; ENSP00000220058; ENSG00000103707 [Q96DP5-1] ENST00000543678; ENSP00000443754; ENSG00000103707 [Q96DP5-2] ENST00000558460; ENSP00000452646; ENSG00000103707 [Q96DP5-1]
GeneIDⁱ	123263
KEGGⁱ	hsa:123263
UCSC genome browser More...UCSCⁱ	uc002aof.5 human [Q96DP5-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length
Q96DP5	Methionyl-tRNA formyltransferase, mitochondrial (Fragment)		HUMAN		134
MTFMT isoform 2		PANTR		389
Mitochondrial methionyl-tRNA formyltransferase		PANPA		389
MTFMT isoform 2		PONAB		389
Mitochondrial methionyl-tRNA formyltransferase		SAIBB		389
+21
Q96DP5-2	MTFMT isoform 1		PONAB		144
MTFMT isoform 1		PANTR		144

Protein	Similar proteins		Species	Score	Length
Q96DP5	Methionyl-tRNA formyltransferase, mitochondrial (Fragment)		HUMAN		134
Mitochondrial methionyl-tRNA formyltransferase		SAIBB		389
Mitochondrial methionyl-tRNA formyltransferase		PANTR		389
Mitochondrial methionyl-tRNA formyltransferase		PANPA		389
MTFMT isoform 2		PONAB		389
+190
Q96DP5-2	MTFMT isoform 1		PANTR		144
MTFMT isoform 1		PONAB		144
UPI00074FE06D		GEKJA		128

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AK055688 mRNA Translation: BAB70984.1 Different initiation. AK301390 mRNA Translation: BAH13470.1 AC013553 Genomic DNA No translation available. AC103691 Genomic DNA No translation available. BC016630 mRNA Translation: AAH16630.2 Different initiation. BC033687 mRNA Translation: AAH33687.1 Different initiation.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS45280.1 [Q96DP5-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_640335.2, NM_139242.3 [Q96DP5-1]
UniGeneⁱ	Hs.531615

3D structure databases

ProteinModelPortalⁱ	Q96DP5
SMRⁱ	Q96DP5
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	125820, 10 interactors
STRINGⁱ	9606.ENSP00000220058

Chemistry databases

Drug and drug target database More...DrugBankⁱ	DB00116 Tetrahydrofolic acid

DrugBankⁱ

DB00116 Tetrahydrofolic acid

PTM databases

iPTMnetⁱ	Q96DP5
PhosphoSitePlusⁱ	Q96DP5

Polymorphism and mutation databases

BioMutaⁱ	MTFMT
DMDMⁱ	27923776

Proteomic databases

EPDⁱ	Q96DP5
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q96DP5
PaxDbⁱ	Q96DP5
PeptideAtlas More...PeptideAtlasⁱ	Q96DP5
PRIDEⁱ	Q96DP5
ProteomicsDBⁱ	76304

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000220058; ENSP00000220058; ENSG00000103707 [Q96DP5-1] ENST00000543678; ENSP00000443754; ENSG00000103707 [Q96DP5-2] ENST00000558460; ENSP00000452646; ENSG00000103707 [Q96DP5-1]
GeneIDⁱ	123263
KEGGⁱ	hsa:123263
UCSC genome browser More...UCSCⁱ	uc002aof.5 human [Q96DP5-1]

Organism-specific databases

CTDⁱ	123263
DisGeNET More...DisGeNETⁱ	123263
EuPathDBⁱ	HostDB:ENSG00000103707.9
GeneCardsⁱ	MTFMT
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:29666 MTFMT
Human Protein Atlas More...HPAⁱ	HPA040710
MalaCards human disease database More...MalaCardsⁱ	MTFMT
MIMⁱ	256000 phenotype 611766 gene 614947 phenotype
neXtProtⁱ	NX_Q96DP5
Open Targets More...OpenTargetsⁱ	ENSG00000103707
Orphanetⁱ	319524 Combined oxidative phosphorylation defect type 15 2609 Isolated NADH-CoQ reductase deficiency
PharmGKBⁱ	PA142671304
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3082 Eukaryota COG0223 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000017828
HOGENOMⁱ	HOG000261177
HOVERGENⁱ	HBG031552
InParanoidⁱ	Q96DP5
KEGG Orthology (KO) More...KOⁱ	K00604
OMAⁱ	NFYKYKR
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0QUP
PhylomeDBⁱ	Q96DP5
TreeFamⁱ	TF323405

Enzyme and pathway databases

Reactomeⁱ	R-HSA-5368286 Mitochondrial translation initiation

Reactomeⁱ

R-HSA-5368286 Mitochondrial translation initiation

Miscellaneous databases

GeneWikiⁱ	MTFMT
GenomeRNAiⁱ	123263
Protein Ontology More...PROⁱ	PR:Q96DP5
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000103707
CleanExⁱ	HS_MTFMT
ExpressionAtlasⁱ	Q96DP5 baseline and differential
Genevisibleⁱ	Q96DP5 HS

Family and domain databases

Gene3Dⁱ	3.10.25.10, 1 hit
InterProⁱ	View protein in InterPro IPR005794 Fmt IPR005793 Formyl_trans_C IPR037022 Formyl_trans_C_sf IPR002376 Formyl_transf_N IPR036477 Formyl_transf_N_sf IPR011034 Formyl_transferase-like_C_sf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF02911 Formyl_trans_C, 1 hit PF00551 Formyl_trans_N, 1 hit
SUPFAMⁱ	SSF50486 SSF50486, 1 hit SSF53328 SSF53328, 1 hit
TIGRFAMsⁱ	TIGR00460 fmt, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	FMT_HUMAN
Accessionⁱ	Q96DP5Primary (citable) accession number: Q96DP5 Secondary accession number(s): B7Z734
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	January 27, 2003
	Last sequence update:	January 27, 2003
	Last modified:	June 20, 2018
	This is version 149 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families

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UniProtKB - Q96DP5 (FMT_HUMAN)

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Methionyl-tRNA formyltransferase, mitochondrial

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Mitochondrion

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

GO - Molecular functionⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequence cautionⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ